Premium
Rheumatoid arthritis in the 46, XX, 18p‐ syndrome
Author(s) -
Finley Sara C.,
Finley W. H.,
Johnson J. C.,
Dodson W. H.,
McPhee H. T.
Publication year - 1972
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/j.1399-0004.1972.tb01482.x
Subject(s) - rheumatoid arthritis , autoimmunity , arthritis , juvenile rheumatoid arthritis , autoimmune disease , medicine , immunology , disease , chromosome 18 , chromosome , genetics , biology , gene
Some of the evidence suggesting a relationship between autoimmunity and chromosomal aberrations is reviewed and an example which may support such a relationship is presented. The propositus was a 5‐year‐old Caucasian female who had juvenile rheumatoid arthritis and a deletion of the short arm of a chromosome 18 (46, XX, 18p‐). Her serum I K A was normal, although I g A deficiency has been reported in a significant number of patients having an 18 deletion syndrome as well as in patients having rheumatoid arthritis. This patient focuses attention on the presently unresolved problem of the association between autoimmune disease and chromosomal aberrations.